Psd2 MGI Mouse Gene Detail - MGI:1921252 - pleckstrin and Sec7 domain containing 2

Symbol

Psd2
Name

pleckstrin and Sec7 domain containing 2
Synonyms

6330404E20Rik, EFA6C

Feature Type

protein coding gene
IDs

MGI:1921252
NCBI Gene: 74002
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr18:36097883-36147768 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 19.34 cM
Mapping Data

2 experiments

SNPs within 2kb

1362 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921252	protein coding gene	Chr18:36075480-36147768 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024273	protein coding gene	Chr18:34325880-34379018 (+)
A/J	MGP_AJ_G0024239	protein coding gene	Chr18:33129727-33180390 (+)
AKR/J	MGP_AKRJ_G0024207	protein coding gene	Chr18:34054749-34104063 (+)
BALB/cJ	MGP_BALBcJ_G0024239	protein coding gene	Chr18:33178214-33228318 (+)
C3H/HeJ	MGP_C3HHeJ_G0024006	protein coding gene	Chr18:34101047-34161051 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024680	protein coding gene	Chr18:35553478-35605244 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022120	protein coding gene	Chr18:33228892-33278089 (+)
CAST/EiJ	MGP_CASTEiJ_G0023481	protein coding gene	Chr18:34094016-34148530 (+)
CBA/J	MGP_CBAJ_G0023974	protein coding gene	Chr18:36583081-36635909 (+)
DBA/2J	MGP_DBA2J_G0024106	protein coding gene	Chr18:32758523-32809748 (+)
FVB/NJ	MGP_FVBNJ_G0024073	protein coding gene	Chr18:32457866-32508966 (+)
LP/J	MGP_LPJ_G0024188	protein coding gene	Chr18:34359330-34411588 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024101	protein coding gene	Chr18:37810109-37862548 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024729	protein coding gene	Chr18:33915584-33966490 (+)
PWK/PhJ	MGP_PWKPhJ_G0023225	protein coding gene	Chr18:32992773-33042880 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023032	protein coding gene	Chr18:34175196-34225853 (+)
WSB/EiJ	MGP_WSBEiJ_G0023544	protein coding gene	Chr18:33832561-33885538 (+)

Human Ortholog

PSD2, pleckstrin and Sec7 domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PSD2, pleckstrin and Sec7 domain containing 2
Synonyms

EFA6C
Links

HGNC:19092

NCBI Gene ID: 84249

neXtProt AC: NX_Q9BQI7

UniProt: Q9BQI7
Chr Location

5q31.2; chr5:139742475-139844466 (+) GRCh38

MGI Vertebrate Homology

Psd2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PSD2
Gene Tree

Psd2

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Endonuclease-mediated

4
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available

Mice homozygous for a null allele display a decrease in the density of asymmetric synapses in the middle molecular layer but no cerebellum-related behavioral defects.

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All GO Annotations

11
GO References

3

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

831
Tissues

80
cDNA Data

61
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

58
RefSeq

13
UniProt

2
CCDS

CCDS37767.1, CCDS79612.1

Ensembl

ENSMUSG00000024347 (Evidence)
NCBI Gene

74002

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024347	Ensembl Gene Model \| MGI Sequence Detail	49886	C57BL/6J	± kb
transcript	ENSMUST00000176873	Ensembl \| MGI Sequence Detail	4375	Not Applicable
polypeptide	ENSMUSP00000135616	Ensembl \| MGI Sequence Detail	771	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000029698 PH and SEC7 domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR041681 Pleckstrin homology domain 9

IPR001605 Pleckstrin homology domain, spectrin-type

IPR023394 Sec7, C-terminal domain superfamily

IPR000904 Sec7 domain

IPR035999 Sec7 domain superfamily

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All nucleic 64

cDNA 61

Primer pair 1

Other 2

Microarray probesets 3

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MGI:2147353

Summaries

All 32

Developmental Gene Expression 5

Gene Ontology 3

Phenotypes 6
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Psd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr150586	Chr18:36098062-36098076 (+)	186 bp
Tssr150587	Chr18:36098089-36098140 (+)	232 bp
Tssr150588	Chr18:36098141-36098163 (+)	269 bp
Tssr150589	Chr18:36132388-36132411 (+)	34,517 bp
Tssr150590	Chr18:36146370-36146380 (+)	48,492 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24